ClinVar Miner

List of variants studied for autosomal dominant non-syndromic intellectual disability by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_003072.5(SMARCA4):c.3922C>T (p.Arg1308Trp) rs587779750 0.00001
NC_000005.9:g.(?_88625195)_(90796047_?)inv
NM_001321075.3(DLG4):c.530G>T (p.Gly177Val) rs2142884433
NM_001374828.1(ARID1B):c.2046del (p.Tyr683fs) rs1582908829
NM_001374828.1(ARID1B):c.2379_2398del (p.His793fs) rs1583280025
NM_001374828.1(ARID1B):c.2677dup (p.Gln893fs) rs1583368813
NM_001374828.1(ARID1B):c.5281dup (p.Arg1761fs) rs1794276185
NM_002397.5(MEF2C):c.194T>G (p.Val65Gly) rs1580988074
NM_003011.4(SET):c.219del (p.Glu73fs)
NM_003073.5(SMARCB1):c.1070C>G (p.Thr357Arg) rs1555881567
NM_003079.5(SMARCE1):c.276G>C (p.Lys92Asn) rs1555605795
NM_003108.4(SOX11):c.1216del (p.Ser406fs) rs1572217107
NM_003108.4(SOX11):c.791C>A (p.Ser264Ter) rs1553327954
NM_005121.3(MED13):c.4417_4418del (p.Leu1473fs)
NM_006015.6(ARID1A):c.3287A>G (p.Tyr1096Cys)
NM_006015.6(ARID1A):c.4049del (p.Ser1350fs) rs2124114899
NM_006015.6(ARID1A):c.4860dup (p.Pro1621fs) rs1553153291
NM_006734.4(HIVEP2):c.2827C>T (p.Arg943Ter) rs869312841
NM_006852.6(TLK2):c.1487A>G (p.His496Arg) rs1567995650
NM_015981.4(CAMK2A):c.49G>A (p.Glu17Lys)
NM_017635.5(KMT5B):c.856C>T (p.Arg286Ter) rs1590954686
NM_024665.7(TBL1XR1):c.1336T>C (p.Tyr446His) rs1553808301
NM_024665.7(TBL1XR1):c.974G>A (p.Cys325Tyr) rs1553810255
NM_205768.3(ZBTB18):c.1301T>C (p.Leu434Pro) rs1553270599
NM_205768.3(ZBTB18):c.1355G>A (p.Cys452Tyr) rs1572531830

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